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Batch queries can be done using pipe "|" as a separator between search terms. Note: Direct classification on the basis of the prior probability alone is a misuse of the Bayesian integrated evaluation model, therefore the dynamic range of the prior probability (Prior P) has been truncated to a minimum of 0.10 and a maximum of 0.90 so that additional sources of information are required to reach posterior probabilities that alter clinical management of patients with variants.
LOVD - Variant listings for MSH6_priors

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Exon Hide Exon column Descending
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DNA change   Descending
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RNA change Hide RNA change column Descending
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Protein Hide Protein column Descending
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Custom PP2.1 score Hide Custom PP2.1 score column Descending
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MAPP score Hide MAPP score column Descending
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MAPP/PP2 Prior P Hide MAPP/PP2 Prior P column Descending
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Reference Hide Reference column Descending
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Template Hide Template column Descending
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10 c.4010G>T - p.C1337F 0.002 2.55 0.0009 Thompson et al., 2013 DNA SEQ MSH6_08801
10 c.4011C>G - p.C1337W 0.622 4.41 0.0399 Thompson et al., 2013 DNA SEQ MSH6_08802
10 c.4012C>A - p.L1338M 0.037 2.02 0.0006 Thompson et al., 2013 DNA SEQ MSH6_08803
10 c.4012C>G - p.L1338V 0.015 5.62 0.0054 Thompson et al., 2013 DNA SEQ MSH6_08804
10 c.4013T>A - p.L1338Q 0.015 2.64 0.0010 Thompson et al., 2013 DNA SEQ MSH6_08805
10 c.4013T>C - p.L1338P 0.107 8.69 0.0211 Thompson et al., 2013 DNA SEQ MSH6_08806
10 c.4013T>G - p.L1338R 0.015 3.13 0.0014 Thompson et al., 2013 DNA SEQ MSH6_08807
10 c.4015G>A - p.A1339T 0.008 4.27 0.0028 Thompson et al., 2013 DNA SEQ MSH6_08808
10 c.4015G>C - p.A1339P 0.350 11.31 0.0995 Thompson et al., 2013 DNA SEQ MSH6_08809
10 c.4015G>T - p.A1339S 0.009 3.46 0.0018 Thompson et al., 2013 DNA SEQ MSH6_08810
10 c.4016C>A - p.A1339D 0.037 9.79 0.0206 Thompson et al., 2013 DNA SEQ MSH6_08811
10 c.4016C>G - p.A1339G 0.025 4.97 0.0043 Thompson et al., 2013 DNA SEQ MSH6_08812
10 c.4016C>T - p.A1339V 0.002 4.16 0.0026 Thompson et al., 2013 DNA SEQ MSH6_08813
10 c.4018A>C - p.S1340R 0.041 32.56 0.2462 Thompson et al., 2013 DNA SEQ MSH6_08814
10 c.4018A>G - p.S1340G 0.005 2.70 0.0010 Thompson et al., 2013 DNA SEQ MSH6_08815
10 c.4018A>T - p.S1340C 0.009 1.61 0.0003 Thompson et al., 2013 DNA SEQ MSH6_08816
10 c.4019G>A - p.S1340N 0.005 10.79 0.0223 Thompson et al., 2013 DNA SEQ MSH6_08817
10 c.4019G>C - p.S1340T 0.000 2.29 0.0007 Thompson et al., 2013 DNA SEQ MSH6_08818
10 c.4019G>T - p.S1340I 0.009 2.61 0.0009 Thompson et al., 2013 DNA SEQ MSH6_08819
10 c.4020T>A - p.S1340R 0.041 32.56 0.2462 Thompson et al., 2013 DNA SEQ MSH6_08820
10 c.4020T>G - p.S1340R 0.041 32.56 0.2462 Thompson et al., 2013 DNA SEQ MSH6_08821
10 c.4021G>A - p.E1341K 0.009 3.72 0.0021 Thompson et al., 2013 DNA SEQ MSH6_08822
10 c.4021G>C - p.E1341Q 0.037 2.67 0.0011 Thompson et al., 2013 DNA SEQ MSH6_08823
10 c.4022A>C - p.E1341A 0.012 6.86 0.0083 Thompson et al., 2013 DNA SEQ MSH6_08824
10 c.4022A>G - p.E1341G 0.005 4.21 0.0027 Thompson et al., 2013 DNA SEQ MSH6_08825
10 c.4022A>T - p.E1341V 0.064 11.95 0.0357 Thompson et al., 2013 DNA SEQ MSH6_08826
10 c.4023A>C - p.E1341D 0.002 2.62 0.0009 Thompson et al., 2013 DNA SEQ MSH6_08827
10 c.4023A>T - p.E1341D 0.002 2.62 0.0009 Thompson et al., 2013 DNA SEQ MSH6_08828
10 c.4024A>G - p.R1342G 0.002 1.66 0.0003 Thompson et al., 2013 DNA SEQ MSH6_08829
10 c.4024A>T - p.R1342W 0.219 3.57 0.0046 Thompson et al., 2013 DNA SEQ MSH6_08830
10 c.4025G>A - p.R1342K 0.001 2.89 0.0011 Thompson et al., 2013 DNA SEQ MSH6_08831
10 c.4025G>C - p.R1342T 0.005 2.48 0.0008 Thompson et al., 2013 DNA SEQ MSH6_08832
10 c.4025G>T - p.R1342M 0.024 2.02 0.0006 Thompson et al., 2013 DNA SEQ MSH6_08833
10 c.4026G>C - p.R1342S 0.002 1.60 0.0003 Thompson et al., 2013 DNA SEQ MSH6_08834
10 c.4026G>T - p.R1342S 0.002 1.60 0.0003 Thompson et al., 2013 DNA SEQ MSH6_08835
10 c.4027T>A - p.S1343T 0.001 2.04 0.0005 Thompson et al., 2013 DNA SEQ MSH6_08836
10 c.4027T>C - p.S1343P 0.001 2.30 0.0007 Thompson et al., 2013 DNA SEQ MSH6_08837
10 c.4027T>G - p.S1343A 0.003 3.17 0.0014 Thompson et al., 2013 DNA SEQ MSH6_08838
10 c.4028C>T - p.S1343L 0.001 4.58 0.0032 Thompson et al., 2013 DNA SEQ MSH6_08839
10 c.4030A>C - p.T1344P 0.017 9.51 0.0177 Thompson et al., 2013 DNA SEQ MSH6_08840
10 c.4030A>G - p.T1344A 0.014 7.62 0.0107 Thompson et al., 2013 DNA SEQ MSH6_08841
10 c.4030A>T - p.T1344S 0.003 1.20 0.0002 Thompson et al., 2013 DNA SEQ MSH6_08842
10 c.4031C>A - p.T1344N 0.024 3.78 0.0023 Thompson et al., 2013 DNA SEQ MSH6_08843
10 c.4031C>G - p.T1344S 0.003 1.20 0.0002 Thompson et al., 2013 DNA SEQ MSH6_08844
10 c.4031C>T - p.T1344I 0.016 7.66 0.0109 Thompson et al., 2013 DNA SEQ MSH6_08845
10 c.4033G>A - p.V1345I 0.001 1.90 0.0004 Thompson et al., 2013 DNA SEQ MSH6_08846
10 c.4033G>C - p.V1345L 0.001 2.37 0.0007 Thompson et al., 2013 DNA SEQ MSH6_08847
10 c.4033G>T - p.V1345L 0.001 2.37 0.0007 Thompson et al., 2013 DNA SEQ MSH6_08848
10 c.4034T>A - p.V1345E 0.002 9.80 0.0178 Thompson et al., 2013 DNA SEQ MSH6_08849
10 c.4034T>C - p.V1345A 0.001 2.99 0.0012 Thompson et al., 2013 DNA SEQ MSH6_08850
10 c.4034T>G - p.V1345G 0.003 1.98 0.0005 Thompson et al., 2013 DNA SEQ MSH6_08851
10 c.4036G>A - p.D1346N 0.001 1.83 0.0004 Thompson et al., 2013 DNA SEQ MSH6_08852
10 c.4036G>C - p.D1346H 0.120 2.84 0.0018 Thompson et al., 2013 DNA SEQ MSH6_08853
10 c.4036G>T - p.D1346Y 0.056 3.77 0.0026 Thompson et al., 2013 DNA SEQ MSH6_08854
10 c.4037A>C - p.D1346A 0.002 4.25 0.0027 Thompson et al., 2013 DNA SEQ MSH6_08855
10 c.4037A>G - p.D1346G 0.012 4.40 0.0031 Thompson et al., 2013 DNA SEQ MSH6_08856
10 c.4037A>T - p.D1346V 0.002 3.56 0.0018 Thompson et al., 2013 DNA SEQ MSH6_08857
10 c.4038T>A - p.D1346E 0.000 2.53 0.0008 Thompson et al., 2013 DNA SEQ MSH6_08858
10 c.4038T>G - p.D1346E 0.000 2.53 0.0008 Thompson et al., 2013 DNA SEQ MSH6_08859
10 c.4039G>A - p.A1347T 0.002 2.91 0.0012 Thompson et al., 2013 DNA SEQ MSH6_08860
10 c.4039G>C - p.A1347P 0.022 5.33 0.0049 Thompson et al., 2013 DNA SEQ MSH6_08861
10 c.4039G>T - p.A1347S 0.000 1.72 0.0003 Thompson et al., 2013 DNA SEQ MSH6_08862
10 c.4040C>A - p.A1347D 0.007 2.88 0.0011 Thompson et al., 2013 DNA SEQ MSH6_08863
10 c.4040C>G - p.A1347G 0.000 2.03 0.0005 Thompson et al., 2013 DNA SEQ MSH6_08864
10 c.4040C>T - p.A1347V 0.001 3.38 0.0016 Thompson et al., 2013 DNA SEQ MSH6_08865
10 c.4042G>A - p.E1348K 0.001 3.16 0.0014 Thompson et al., 2013 DNA SEQ MSH6_08866
10 c.4042G>C - p.E1348Q 0.001 1.50 0.0003 Thompson et al., 2013 DNA SEQ MSH6_08867
10 c.4043A>C - p.E1348A 0.000 3.65 0.0019 Thompson et al., 2013 DNA SEQ MSH6_08868
10 c.4043A>G - p.E1348G 0.008 3.89 0.0023 Thompson et al., 2013 DNA SEQ MSH6_08869
10 c.4043A>T - p.E1348V 0.001 3.50 0.0017 Thompson et al., 2013 DNA SEQ MSH6_08870
10 c.4044A>C - p.E1348D 0.000 2.55 0.0008 Thompson et al., 2013 DNA SEQ MSH6_08871
10 c.4044A>T - p.E1348D 0.000 2.55 0.0008 Thompson et al., 2013 DNA SEQ MSH6_08872
10 c.4045G>A - p.A1349T 0.190 4.95 0.0085 Thompson et al., 2013 DNA SEQ MSH6_08873
10 c.4045G>C - p.A1349P 0.608 16.96 0.4542 Thompson et al., 2013 DNA SEQ MSH6_08874
10 c.4045G>T - p.A1349S 0.164 4.68 0.0067 Thompson et al., 2013 DNA SEQ MSH6_08875
10 c.4046C>A - p.A1349D 0.100 6.13 0.0094 Thompson et al., 2013 DNA SEQ MSH6_08876
10 c.4046C>G - p.A1349G 0.245 7.25 0.0251 Thompson et al., 2013 DNA SEQ MSH6_08877
10 c.4046C>T - p.A1349V 0.009 3.67 0.0020 Thompson et al., 2013 DNA SEQ MSH6_08878
10 c.4048G>A - p.V1350I 0.001 1.40 0.0002 Thompson et al., 2013 DNA SEQ MSH6_08879
10 c.4048G>C - p.V1350L 0.001 2.10 0.0005 Thompson et al., 2013 DNA SEQ MSH6_08880
10 c.4048G>T - p.V1350F 0.002 3.82 0.0021 Thompson et al., 2013 DNA SEQ MSH6_08881
10 c.4049T>A - p.V1350D 0.026 6.59 0.0081 Thompson et al., 2013 DNA SEQ MSH6_08882
10 c.4049T>C - p.V1350A 0.009 7.97 0.0115 Thompson et al., 2013 DNA SEQ MSH6_08883
10 c.4049T>G - p.V1350G 0.026 10.87 0.0248 Thompson et al., 2013 DNA SEQ MSH6_08884
10 c.4051C>A - p.H1351N 0.005 3.64 0.0019 Thompson et al., 2013 DNA SEQ MSH6_08885
10 c.4051C>G - p.H1351D 0.001 5.68 0.0052 Thompson et al., 2013 DNA SEQ MSH6_08886
10 c.4051C>T - p.H1351Y 0.005 5.38 0.0047 Thompson et al., 2013 DNA SEQ MSH6_08887
10 c.4052A>C - p.H1351P 0.000 10.38 0.0201 Thompson et al., 2013 DNA SEQ MSH6_08888
10 c.4052A>G - p.H1351R 0.000 2.75 0.0010 Thompson et al., 2013 DNA SEQ MSH6_08889
10 c.4052A>T - p.H1351L 0.000 6.43 0.0069 Thompson et al., 2013 DNA SEQ MSH6_08890
10 c.4053T>A - p.H1351Q 0.009 3.02 0.0013 Thompson et al., 2013 DNA SEQ MSH6_08891
10 c.4053T>G - p.H1351Q 0.009 3.02 0.0013 Thompson et al., 2013 DNA SEQ MSH6_08892
10 c.4054A>C - p.K1352Q 0.027 2.20 0.0007 Thompson et al., 2013 DNA SEQ MSH6_08893
10 c.4054A>G - p.K1352E 0.002 4.52 0.0031 Thompson et al., 2013 DNA SEQ MSH6_08894
10 c.4055A>C - p.K1352T 0.001 3.59 0.0018 Thompson et al., 2013 DNA SEQ MSH6_08895
10 c.4055A>G - p.K1352R 0.002 2.12 0.0006 Thompson et al., 2013 DNA SEQ MSH6_08896
10 c.4055A>T - p.K1352I 0.003 7.73 0.0105 Thompson et al., 2013 DNA SEQ MSH6_08897
10 c.4056A>C - p.K1352N 0.001 1.77 0.0004 Thompson et al., 2013 DNA SEQ MSH6_08898
10 c.4056A>T - p.K1352N 0.001 1.77 0.0004 Thompson et al., 2013 DNA SEQ MSH6_08899
10 c.4057T>A - p.L1353M 0.334 3.48 0.0071 Thompson et al., 2013 DNA SEQ MSH6_08900
8801 - 8900
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Note: Direct classification on the basis of the prior probability alone is a misuse of the Bayesian integrated evaluation model, therefore the dynamic range of the prior probability (Prior P) has been truncated to a minimum of 0.10 and a maximum of 0.90 so that additional sources of information are required to reach posterior probabilities that alter clinical management of patients with variants.

Legend: [ MSH6_priors full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Custom PP2.1 score: Custom PolyPhen 2.1 score MAPP score: output score from MAPP MAPP/PP2 Prior P: MAPP/PP2 Prior probability of pathogenicity Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. MSH6 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.

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